Varaico: Literature-Extracted Genetic Variants

NOTCH2

1,480 papers

RefSeq Summary

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal ...

Pfam Domains

EGFaa 68–100UCSCEGF-like domain

EGFaa 109–141UCSCEGF-like domain

EGFaa 148–178UCSCEGF-like domain

EGF_CAaa 182–221UCSCCalcium-binding EGF domain

hEGFaa 269–290UCSCHuman growth factor-like EGF

EGF_CAaa 298–338UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 2

HGNC Previous Names

Notch (Drosophila) homolog 2; Notch homolog 2 (Drosophila); notch 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024408.4

p.P34_C35delFs

c.100_103del4

Surrounding Variants

1 paper

NM_024408.4

p.P34fs

c.100_101fs

1 paper

NM_024408.4

p.N37D

c.109A>G

1 paper

NM_024408.4

p.E33E

c.99A>G

1 paper

NM_024408.4

p.N37S

c.110A>G

1 paper

NM_024408.4

p.E33*

c.97G>T

1 paper

NM_024408.4

p.E33Q

c.97G>C

1 paper

NM_024408.4

p.E33K

c.97G>A

20 papers

NM_024408.4

p.E38K

c.112G>A

1 paper

NM_024408.4

p.P34_N37del4

c.100_110del12

1 paper

NM_024408.4

p.G31insFs

c.91dupG

2 papers

NM_024408.4

p.G31A

c.92G>C

1 paper

NM_024408.4

p.G39E

c.116G>A